Endocrine Abstracts

Introduction: Gonadal dysgenesis is a rare cause of primary amenorrhoea, and refers to a number of conditions in which gonadal development is abnormal leading to streak or hypoplastic gonads. We present a rare case of a girl with primary amenorrhea, tall stature, gonadal dysgenesis and karyotype 46,XX. A 15 years old girl with primary amenorrhoea referred to our department for futher investigation. On clinical examination she was tall (height 1.74 m), her weight was 76 kg and BMI 25,10. She had normal intelligence and appearance with no dysmorphic features. External genitalia were normal but was at a prepubertal stage of sexual development. Laboratory investigations revealed hypergonadotrophic hypogonadism (FSH =77.4 mIU/ml, LH = 42.32 mIU/ml, E₂=5 pg/ml), subclinical hypothyroidism (TSH =5.1 μIU/ml) and hypoplastic uterous and small right ovary on an abdominal ultrasound. Bone age was delayed at 14 years and the karyotype was 46, XX. Hormonal replacement therapy was initiated in the begining with 17β-estradiol alone and then in combination with norethisterone. After nine months on treatment she developed breast and pubic hair (Tanner III and III-IV respectively) and an increased size of uterous and right ovary and visualization of the left ovarian tissue was observed on MRI Pelvis.

Conclusions: 46,XX gonadal dysgenesis is a rare cause of primary amenorrhoea. It is important to be diagnosed as early as possible so that HRT treatment begins promptly. The kind of hormone replacement depends on the time of diagnosis and the status of secondary sexual characteristics.